From: <pr...@us...> - 2013-12-20 06:50:51
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Revision: 5085 http://sourceforge.net/p/obo/svn/5085 Author: probins Date: 2013-12-20 06:50:47 +0000 (Fri, 20 Dec 2013) Log Message: ----------- ITM Revisions Modified Paths: -------------- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128710.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-146300.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186830.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225753.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227850.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231080.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239850.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-246550.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249599.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249600.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-258500.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-275250.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-601098.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-602086.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605670.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-605899.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-606835.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607596.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-607628.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-608641.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-609115.tab phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-610768.tab Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128710.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128710.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-128710.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,4 +1,3 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:128710 EAR PITS, POSTERIOR HELICAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:128710 HPO 17.02.2009 -OMIM:128710 EAR PITS, POSTERIOR HELICAL HP:0004467 Preauricular pit ITM ITM OMIM:128710 HPO 17.02.2009 -OMIM:128710 EAR PITS, POSTERIOR HELICAL HP:0008523 Posterior helix pit IEA IEA OMIM:128710 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:128710 EAR PITS, POSTERIOR HELICAL HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:128710 HPO:probinson Feb 17, 2009 +OMIM:128710 EAR PITS, POSTERIOR HELICAL HP:0008523 Posterior helix pit TAS TAS OMIM:128710 HPO:probinson Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-146300.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-146300.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-146300.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,14 +1,14 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000670 Carious teeth IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000934 Chondrocalcinosis IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0001760 Abnormality of the feet IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002659 Increased susceptibility to fractures ITM ITM OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002748 Rickets IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002749 Osteomalacia IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002756 Pathologic fracture IEA IEA OMIM:146300 HPO:skoehler 20.06.2010 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002757 Recurrent fractures IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0003282 Low alkaline phosphatase IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0006323 Premature loss of primary teeth IEA IEA OMIM:146300 HPO 17.02.2009 -OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0006357 Premature loss of permanent teeth IEA IEA OMIM:146300 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000670 Carious teeth IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0000934 Chondrocalcinosis IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0001760 Abnormality of the foot IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002659 Increased susceptibility to fractures TAS TAS OMIM:146300 HPO:skoehler Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002748 Rickets IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002749 Osteomalacia IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002756 Pathologic fracture TAS TAS OMIM:146300 HPO:skoehler Jun 20, 2010 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0002757 Recurrent fractures TAS TAS OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0003282 Low alkaline phosphatase IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0006323 Premature loss of primary teeth IEA IEA OMIM:146300 HPO Feb 17, 2009 +OMIM:146300 HYPOPHOSPHATASIA, ADULT HP:0006357 Premature loss of permanent teeth IEA IEA OMIM:146300 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-157900.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,54 +1,53 @@ Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -MIM:157900 MOEBIUS SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000044 Hypogonadotrophic hypogonadism IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000156 High-arched palate IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000286 Epicanthus IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000298 Mask-like facies IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000425 Flattened nasal bridge IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000470 Short neck IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000565 Esotropia IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000568 Microphthalmos IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000577 Exotropia IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000598 Abnormality of the ear IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001159 Syndactyly IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001171 Ectrodactyly (hands) IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001256 Intellectual disability, mild IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001260 Dysarthria IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001270 Motor delay IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001288 Gait disturbance IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001420 Isolated cases IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001491 Congenital fibrosis of extraocular muscles IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001597 Abnormality of the nail IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001608 Abnormality of the voice IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001739 Abnormality of the nasopharynx IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001762 Talipes equinovarus IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0001763 Pes planus IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002015 Dysphagia IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002075 Dysdiadochokinesis IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002312 Clumsiness IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002365 Hypoplasia of the brainstem IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002370 Poor coordination IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002644 Abnormality of the pelvis IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0002880 Respiratory difficulties ITM ITM 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0004784 Juvenile gastrointestinal polyposis IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0008734 Decreased testicular size IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0008872 Feeding problems in infancy IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0008947 Infantile muscular hypotonia IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0009803 Hypoplastic/small phalanges of the hand IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0009816 Hypoplasia involving bones of the lower limbs IEA IEA 17.02.2009 -MIM:157900 MOEBIUS SYNDROME HP:0000054 Micropenis PCS PCS MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0000347 Micrognathia PCS PCS 64% MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0009466 Radial deviation of finger PCS PCS MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0002804 Arthrogryposis multiplex congenita PCS PCS 6% MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0001349 Facial diplegia PCS PCS MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0000932 Abnormality of the posterior cranial fossa PCS PCS MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching PCS PCS MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0000316 Hypertelorism PCS PCS 25% MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0000164 Abnormality of the teeth PCS PCS 37% MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0000193 Bifid uvula PCS PCS 11% MIM:157900 HPO:probinson 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA 26.03.2012 -MIM:157900 MOEBIUS SYNDROME HP:0000750 Delayed speech and language development PCS PCS 55% MIM:157900 HPO:probinson 26.03.2012 -OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0003812 Phenotypic variability IEA IEA OMIM-CS:MISCELLANEOUS > HIGHLY VARIABLE PHENOTYPE OMIM:157900 HPO:skoehler 17.10.2012 -OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0012385 Camptodactyly IEA IEA OMIM-CS:SKELETAL_HANDS > CAMPTODACTYLY OMIM:157900 HPO:skoehler 22.10.2013 +MIM:157900 MOEBIUS SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000044 Hypogonadotrophic hypogonadism IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000156 High-arched palate IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000286 Epicanthus IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000298 Mask-like facies IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000425 Flattened nasal bridge IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000470 Short neck IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000565 Esotropia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000568 Microphthalmos IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000577 Exotropia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000598 Abnormality of the ear IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001159 Syndactyly IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001171 Split hand IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001256 Intellectual disability, mild IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001260 Dysarthria IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001270 Motor delay IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001288 Gait disturbance IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001420 Isolated cases IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001491 Congenital fibrosis of extraocular muscles IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001597 Abnormality of the nail IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001608 Abnormality of the voice IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001739 Abnormality of the nasopharynx IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001762 Talipes equinovarus IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0001763 Pes planus IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002015 Dysphagia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002075 Dysdiadochokinesis IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002312 Clumsiness IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002365 Hypoplasia of the brainstem IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002370 Poor coordination IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002644 Abnormality of pelvic girdle bone morphology IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0002880 Respiratory difficulties TAS TAS in infancy MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0004784 Juvenile gastrointestinal polyposis IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0008734 Decreased testicular size IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0008872 Feeding difficulties in infancy IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0008947 Infantile muscular hypotonia IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0009803 Short phalanx of finger IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0009816 Hypoplasia involving bones of the lower limbs IEA IEA MIM:157900 HPO:probinson Feb 17, 2009 +MIM:157900 MOEBIUS SYNDROME HP:0000054 Micropenis TAS TAS MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0000347 Micrognathia TAS TAS 64% MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0009466 Radial deviation of finger TAS TAS MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0002804 Arthrogryposis multiplex congenita TAS TAS 6% MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0001349 Facial diplegia TAS TAS MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0000932 Abnormality of the posterior cranial fossa TAS TAS MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0001188 Hand clenching TAS TAS MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0000316 Hypertelorism TAS TAS 25% MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0000164 Abnormality of the teeth TAS TAS 37% MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0000193 Bifid uvula TAS TAS 11% MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones IEA IEA MIM:157900 HPO:probinson Mar 26, 2012 +MIM:157900 MOEBIUS SYNDROME HP:0000750 Delayed speech and language development TAS TAS 55% MIM:157900 HPO:probinson Mar 26, 2012 +OMIM:157900 %157900 MOEBIUS SYNDROME; MBS;;MOBIUS SYNDROME; MBS;;MOEBIUS SEQUENCE HP:0012385 Camptodactyly TAS TAS MIM:157900 HPO:skoehler Oct 22, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185500.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185500.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-185500.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,5 +1,6 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:185500 HPO 17.02.2009 -OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0004381 Supravalvular aortic stenosis ITM ITM OMIM:185500 HPO 17.02.2009 -OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0004415 Pulmonary artery stenosis IEA IEA OMIM:185500 HPO 17.02.2009 -OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0004928 Peripheral arterial stenosis IEA IEA OMIM:185500 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:185500 HPO:skoehler Feb 17, 2009 +OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0004381 Supravalvular aortic stenosis TAS TAS OMIM:185500 HPO:skoehler Feb 17, 2009 +OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0004415 Pulmonary artery stenosis TAS TAS OMIM:185500 HPO:skoehler Feb 17, 2009 +OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0004928 Peripheral arterial stenosis TAS TAS OMIM:185500 HPO:skoehler Feb 17, 2009 +OMIM:185500 SUPRAVALVULAR AORTIC STENOSIS HP:0001642 Pulmonic stenosis TAS TAS OMIM:185500 HPO:probinson Dec 20, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186830.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186830.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-186830.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,5 +1,3 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:186830 CD3 ANTIGEN, EPSILON SUBUNIT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM:186830 HPO 17.02.2009 -OMIM:186830 CD3 ANTIGEN, EPSILON SUBUNIT HP:0001888 Lymphopenia ITM ITM OMIM:186830 HPO 17.02.2009 -OMIM:186830 CD3 ANTIGEN, EPSILON SUBUNIT HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:186830 HPO 17.02.2009 -OMIM:186830 CD3 ANTIGEN, EPSILON SUBUNIT HP:0002721 Immunodeficiency IEA IEA OMIM:186830 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:186830 CD3 ANTIGEN, EPSILON SUBUNIT HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:186830 HPO:skoehler Feb 17, 2009 +OMIM:186830 CD3 ANTIGEN, EPSILON SUBUNIT HP:0002721 Immunodeficiency TAS TAS OMIM:186830 HPO:skoehler Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225753.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225753.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-225753.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,19 +1,19 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0000252 Microcephaly IEA IEA OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001276 Hypertonia ITM ITM OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001321 Cerebellar hypoplasia IEA IEA OMIM:225753 HPO:skoehler 18.06.2010 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001336 Myoclonus IEA IEA OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001522 Death in infancy IEA IEA OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002171 Gliosis IEA IEA OMIM:225753 HPO:skoehler 20.06.2010 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002529 Neuronal loss in central nervous system ITM ITM OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0007053 Pontocerebellar hypoplasia ITM ITM OMIM:225753 HPO 17.02.2009 -OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0007105 Infantile encephalopathy IEA IEA OMIM:225753 HPO 17.02.2009 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:INHERITANCE > AUTOSOMAL RECESSIVE OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0003577 Congenital onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET AT BIRTH OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002365 Hypoplasia of the brainstem IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > BRAINSTEM HYPOPLASIA OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001250 Seizures IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SEIZURES OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001257 Spasticity IEA IEA OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > SPASTICITY OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001561 Polyhydramnios IEA IEA OMIM-CS:PRENATAL MANIFESTATIONS_AMNIOTIC FLUID > POLYHYDRAMNIOS OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002803 Congenital contractures IEA IEA OMIM-CS:SKELETAL > CONGENITAL CONTRACTURES OMIM:225753 HPO:skoehler 17.10.2012 -OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001263 Global developmental delay IEA IEA MODIFIER:PROFOUND;OMIM-CS:NEUROLOGIC_CENTRAL NERVOUS SYSTEM > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND OMIM:225753 HPO:skoehler 06.06.2013 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0000252 Microcephaly IEA IEA OMIM:225753 HPO Feb 17, 2009 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001276 Hypertonia HP:0003577 Congenital onset TAS TAS OMIM:225753 HPO:probinson Feb 17, 2009 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001321 Cerebellar hypoplasia IEA IEA OMIM:225753 HPO:skoehler Jun 18, 2010 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001336 Myoclonus IEA IEA OMIM:225753 HPO Feb 17, 2009 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001522 Death in infancy IEA IEA OMIM:225753 HPO Feb 17, 2009 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001939 Abnormality of metabolism/homeostasis IEA IEA OMIM:225753 HPO Feb 17, 2009 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002171 Gliosis IEA IEA OMIM:225753 HPO:skoehler Jun 20, 2010 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0007053 Pontocerebellar hypoplasia TAS TAS OMIM:225753 HPO:skoehler Feb 17, 2009 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0007105 Infantile encephalopathy IEA IEA OMIM:225753 HPO Feb 17, 2009 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0000007 Autosomal recessive inheritance TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0003577 Congenital onset TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002365 Hypoplasia of the brainstem TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001250 Seizures TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001257 Spasticity TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0001561 Polyhydramnios TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0002803 Congenital contractures TAS TAS OMIM:225753 HPO:skoehler Oct 17, 2012 +OMIM:225753 #225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0011344 Severe global developmental delay TAS TAS OMIM:225753 HPO:skoehler Jun 6, 2013 +OMIM:225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA HP:0007001 Loss of Purkinje cells in the cerebellar vermis TAS TAS OMIM:225753 HPO:probinson Dec 20, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227850.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227850.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-227850.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,8 +1,7 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:227850 FANCONI-LIKE SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:227850 HPO 17.02.2009 -OMIM:227850 FANCONI-LIKE SYNDROME HP:0001876 Pancytopenia IEA IEA OMIM:227850 HPO 17.02.2009 -OMIM:227850 FANCONI-LIKE SYNDROME HP:0001994 Renal Fanconi syndrome ITM ITM OMIM:227850 HPO 17.02.2009 -OMIM:227850 FANCONI-LIKE SYNDROME HP:0002754 Osteomyelitis IEA IEA OMIM:227850 HPO 17.02.2009 -OMIM:227850 FANCONI-LIKE SYNDROME HP:0002783 Recurrent lower respiratory tract infections IEA IEA OMIM:227850 HPO 17.02.2009 -OMIM:227850 FANCONI-LIKE SYNDROME HP:0005939 Multiple bilateral pneumothoraces IEA IEA OMIM:227850 HPO 17.02.2009 -OMIM:227850 FANCONI-LIKE SYNDROME HP:0007606 Multiple cutaneous malignancies IEA IEA OMIM:227850 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:227850 FANCONI-LIKE SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:227850 HPO Feb 17, 2009 +OMIM:227850 FANCONI-LIKE SYNDROME HP:0001876 Pancytopenia IEA IEA OMIM:227850 HPO Feb 17, 2009 +OMIM:227850 FANCONI-LIKE SYNDROME HP:0002754 Osteomyelitis IEA IEA OMIM:227850 HPO Feb 17, 2009 +OMIM:227850 FANCONI-LIKE SYNDROME HP:0002783 Recurrent lower respiratory tract infections IEA IEA OMIM:227850 HPO Feb 17, 2009 +OMIM:227850 FANCONI-LIKE SYNDROME HP:0005939 Multiple bilateral pneumothoraces IEA IEA OMIM:227850 HPO Feb 17, 2009 +OMIM:227850 FANCONI-LIKE SYNDROME HP:0007606 Multiple cutaneous malignancies IEA IEA OMIM:227850 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-229200.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,22 +1,21 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000256 Macrocephaly IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000286 Epicanthus IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000365 Hearing impairment IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000545 Myopia IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000563 Keratoconus IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000572 Visual loss IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000592 Blue sclerae IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000703 Dentinogenesis imperfecta IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000987 Atypical scarring of skin IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000993 Molluscoid pseudotumors IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001016 Excessive wrinkled skin (palms and soles) IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001119 Keratoglobus IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001374 Congenital hip dislocation IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001388 Joint laxity IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001519 Disproportionate tall stature IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001634 Mitral valve prolapse IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001939 Abnormality of metabolism/homeostasis ITM ITM OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0002297 Red hair IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0002650 Scoliosis IEA IEA OMIM:229200 HPO 17.02.2009 -OMIM:229200 BRITTLE CORNEA SYNDROME HP:0003302 Spondylolisthesis IEA IEA OMIM:229200 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000256 Macrocephaly IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000286 Epicanthus IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000365 Hearing impairment IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000545 Myopia IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000563 Keratoconus IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000572 Visual loss IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000592 Blue sclerae IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000703 Dentinogenesis imperfecta IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000987 Atypical scarring of skin IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0000993 Molluscoid pseudotumors IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001016 Excessive wrinkled skin (palms and soles) IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001119 Keratoglobus IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001374 Congenital hip dislocation IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001388 Joint laxity IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001519 Disproportionate tall stature IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0001634 Mitral valve prolapse IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0002297 Red hair IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0002650 Scoliosis IEA IEA OMIM:229200 HPO Feb 17, 2009 +OMIM:229200 BRITTLE CORNEA SYNDROME HP:0003302 Spondylolisthesis IEA IEA OMIM:229200 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231080.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231080.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-231080.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,6 +1,5 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:231080 GERMAN SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:231080 HPO 17.02.2009 -OMIM:231080 GERMAN SYNDROME HP:0001004 Lymphedema IEA IEA OMIM:231080 HPO 17.02.2009 -OMIM:231080 GERMAN SYNDROME HP:0001252 Muscular hypotonia ITM ITM OMIM:231080 HPO 17.02.2009 -OMIM:231080 GERMAN SYNDROME HP:0001648 Cor pulmonale IEA IEA OMIM:231080 HPO 17.02.2009 -OMIM:231080 GERMAN SYNDROME HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM:231080 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:231080 GERMAN SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:231080 HPO Feb 17, 2009 +OMIM:231080 GERMAN SYNDROME HP:0001004 Lymphedema IEA IEA OMIM:231080 HPO Feb 17, 2009 +OMIM:231080 GERMAN SYNDROME HP:0001252 Muscular hypotonia ITM ITM OMIM:231080 HPO Feb 17, 2009 +OMIM:231080 GERMAN SYNDROME HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM:231080 HPO Feb 17, 2009 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239850.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239850.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-239850.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,41 +1,41 @@ Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000006 Autosomal dominant inheritance IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000179 Thick lower lip vermilion IEA IEA MIM:239850 HPO:probinson 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000212 Gingival overgrowth IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0011220 Prominent forehead IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000256 Macrocephaly IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000280 Coarse facial features IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000286 Epicanthus IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000343 Long philtrum IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0005280 Depressed nasal bridge PCS PCS MIM:239850 HPO:probinson 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000463 Nares, anteverted IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000470 Short neck IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0007665 Curly eyelashes PCS PCS MIM:239850 HPO:probinson 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000774 Narrow chest IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000926 Platyspondyly IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000939 Osteoporosis IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001004 Lymphedema IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001256 Intellectual disability, mild IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001520 Macrosomia IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001537 Umbilical hernia IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001640 Cardiomegaly IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001643 Patent ductus arteriosus IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001647 Bicuspid aortic valve IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001698 Pericardial effusion IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0002673 Coxa valga IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0002690 Large sella turcica ITM ITM 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0002750 Delayed skeletal maturation IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0003016 Metaphyseal widening IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0003300 Ovoid vertebral bodies IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0004540 Congenital, generalized hypertrichosis IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0004634 Cuboid-shaped vertebral bodies IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0010068 Broad 1st metatarsal IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0004975 Erlenmeyer flask deformity of the femurs IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0005129 Congenital hypertrophy of left ventricle IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0005445 Widened posterior fossa IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0010109 Hypoplastic/small hallux PCS PCS MIM:239850 HPO:probinson 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0008822 Hypoplastic ishchiopubic rami IEA IEA 17.02.2009 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000215 Thick upper lip vermilion PCS PCS MIM:239850 HPO:probinson 02.03.2012 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0010055 Broad hallux PCS PCS MIM:239850 HPO:probinson 02.03.2012 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000431 Broad nasal bridge PCS PCS MIM:239850 HPO:probinson 02.03.2012 -MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000527 Long eyelashes PCS PCS MIM:239850 HPO:probinson 02.03.2012 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000006 Autosomal dominant inheritance IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000179 Thick lower lip vermilion IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000212 Gingival overgrowth IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0011220 Prominent forehead IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000256 Macrocephaly IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000280 Coarse facial features IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000286 Epicanthus IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000343 Long philtrum IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0005280 Depressed nasal bridge TAS TAS MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000463 Anteverted nares IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000470 Short neck IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0007665 Curly eyelashes TAS TAS MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000774 Narrow chest IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000926 Platyspondyly IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000939 Osteoporosis IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001004 Lymphedema IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001256 Intellectual disability, mild IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001520 Large for gestational age IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001537 Umbilical hernia IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001640 Cardiomegaly IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001643 Patent ductus arteriosus IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001647 Bicuspid aortic valve IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0001698 Pericardial effusion IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0002673 Coxa valga IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0002690 Large sella turcica TAS TAS MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0002750 Delayed skeletal maturation IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0003016 Metaphyseal widening IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0003300 Ovoid vertebral bodies IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0004540 Congenital, generalized hypertrichosis IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0004634 Cuboid-shaped vertebral bodies IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0010068 Broad first metatarsal IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0004975 Erlenmeyer flask deformity of the femurs IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0005129 Congenital hypertrophy of left ventricle IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0005445 Widened posterior fossa IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0010109 Short hallux TAS TAS MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0008822 Hypoplastic ischiopubic rami IEA IEA MIM:239850 HPO:probinson Feb 17, 2009 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000215 Thick upper lip vermilion TAS TAS MIM:239850 HPO:probinson Mar 2, 2012 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0010055 Broad hallux TAS TAS MIM:239850 HPO:probinson Mar 2, 2012 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000431 Wide nasal bridge TAS TAS MIM:239850 HPO:probinson Mar 2, 2012 +MIM:239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA HP:0000527 Long eyelashes TAS TAS MIM:239850 HPO:probinson Mar 2, 2012 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-246550.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-246550.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-246550.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,17 +1,17 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:246550 LICHTENSTEIN SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0000463 Nares, anteverted IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0000664 Synophrys IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0000939 Osteoporosis IEA IEA OMIM:246550 HPO:skoehler 20.06.2010 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0001875 Neutropenia IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0001999 Abnormal facial shape IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0002086 Abnormality of the respiratory system IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0002423 Long-tract signs IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0002659 Increased susceptibility to fractures ITM ITM OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0002719 Recurrent infections IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0002720 Decreased IgA IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0003320 C1-C2 subluxation IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0005674 Metacarpophalangeal camptodactyly IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0009465 Ulnar deviation of finger IEA IEA OMIM:246550 HPO 17.02.2009 -OMIM:246550 LICHTENSTEIN SYNDROME HP:0010806 U-Shaped upper lip vermilion ITM ITM OMIM:246550 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:246550 LICHTENSTEIN SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0000463 Anteverted nares IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0000664 Synophrys IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0000939 Osteoporosis IEA IEA OMIM:246550 HPO:skoehler Jun 20, 2010 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0000954 Single transverse palmar crease IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0001875 Neutropenia IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0001999 Abnormal facial shape IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0002086 Abnormality of the respiratory system IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0002423 Long-tract signs IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0002659 Increased susceptibility to fractures TAS TAS OMIM:246550 HPO:skoehler Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0002719 Recurrent infections IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0002720 IgA deficiency IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0003320 C1-C2 subluxation IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0005674 Metacarpophalangeal camptodactyly IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0009465 Ulnar deviation of finger IEA IEA OMIM:246550 HPO Feb 17, 2009 +OMIM:246550 LICHTENSTEIN SYNDROME HP:0002714 Downturned corners of mouth TAS TAS OMIM:246550 HPO:probinson Dec 20, 2013 Modified: phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249599.tab =================================================================== --- phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249599.tab 2013-12-19 06:41:37 UTC (rev 5084) +++ phenotype-commons/annotations/OMIM/by-disease/annotated/OMIM-249599.tab 2013-12-20 06:50:47 UTC (rev 5085) @@ -1,13 +1,13 @@ -Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000276 Long face IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000303 Mandibular prognathia IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000445 Broad nose IEA IEA OMIM:249599 HPO:skoehler 20.06.2010 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000490 Deeply set eye IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000589 Coloboma ITM ITM OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000815 Hypergonadotropic hypogonadism IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000819 Diabetes mellitus IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0001250 Seizures IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0002260 Craniofacial dysmorphism IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0002342 Intellectual disability, moderate IEA IEA OMIM:249599 HPO 17.02.2009 -OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0003782 Eunuchoid habitus IEA IEA OMIM:249599 HPO 17.02.2009 +Disease ID Disease Name Gene ID Gene Name Genotype Gene Symbol(s) Phenotype ID Phenotype Name Age of Onset ID Age of Onset Name Evidence ID Evidence Name Frequency Sex ID Sex Name Negation ID Negation Name Description Pub Assigned by Date Created +OMIM:249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM:249599 HPO Feb 17, 2009 +OMIM:249599 MENTAL RETARDATION ... 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